Life-threatening anaphylactic reactions and severe allergic reactions have been observed in some patients during NAGLAZYME (galsulfase) infusions and up to 24 hours after infusion. If these reactions occur, immediate discontinuation of NAGLAZYME is recommended and appropriate medical treatment should be initiated, which may include resuscitation, epinephrine, administering additional antihistamines, antipyretics or corticosteroids. In patients who have experienced anaphylaxis or other severe allergic reactions during infusion with NAGLAZYME, caution should be exercised upon rechallenge; appropriately trained personnel and equipment for emergency resuscitation (including epinephrine) should be available during infusions. As with other enzyme replacement therapies, immune-mediated reactions, including membranous glomerulonephritis have been observed. In clinical trials, nearly all patients developed antibodies as a result of treatment with NAGLAZYME; however, the analysis revealed no consistent ...
TY - JOUR. T1 - Decline in arylsulfatase B leads to increased invasiveness of melanoma cells. AU - Bhattacharyya, Sumit. AU - Feferman, Leo. AU - Terai, Kaoru. AU - Dudek, Arkadiusz Z.. AU - Tobacman, Joanne K.. PY - 2017/1/1. Y1 - 2017/1/1. N2 - Arylsulfatase B (ARSB; N-acetylgalactosamine 4-sulfatase) is reduced in several malignancies, but levels in melanoma have not been investigated previously. Experiments were performed in melanoma cell lines to determine ARSB activity and impact on melanoma invasiveness. ARSB activity was reduced ~50% in melanoma cells compared to normal melanocytes. Silencing ARSB significantly increased the mRNA expression of chondroitin sulfate proteoglycan(CSPG)4 and pro-matrix metalloproteinase(MMP)-2, known mediators of melanoma progression. Also, invasiveness and MMP activity increased when ARSB was reduced, and recombinant ARSB inhibited invasiveness and MMP activity. Since the only known function of ARSB is to remove 4-sulfate groups from the ...
Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern. The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective dermatan sulfate breakdown with lysosomal accumulation. This accumulation of glycosaminoglycans is responsible for the widespread signs and symptoms found in this disease. Bone destruction in shoulders, hips and skull is often seen by the second decade of life and may become evident later in the knees and spine. Early growth may be normal but eventually slows resulting in short stature. Dysplasia of bones comprising these joints leads to stiffness and restricted movement. The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.. Myelopathy and even tetraplegia can result from vertebral compression. Intelligence is often normal although more severely affected individuals may have some cognitive defects due to ...
Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern. The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective dermatan sulfate breakdown with lysosomal accumulation. This accumulation of glycosaminoglycans is responsible for the widespread signs and symptoms found in this disease. Bone destruction in shoulders, hips and skull is often seen by the second decade of life and may become evident later in the knees and spine. Early growth may be normal but eventually slows resulting in short stature. Dysplasia of bones comprising these joints leads to stiffness and restricted movement. The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.. Myelopathy and even tetraplegia can result from vertebral compression. Intelligence is often normal although more severely affected individuals may have some cognitive defects due to ...
What rhymes with n-acetylgalactosamine-4-sulfatase? Lookup it up at Rhymes.net - the most comprehensive rhyming words dictionary on the web!
Life-threatening anaphylactic reactions and severe allergic reactions have been observed in some patients during NAGLAZYME (galsulfase) infusions and up to 24 hours after infusion. If these reactions occur, immediate discontinuation of NAGLAZYME is recommended and appropriate medical treatment should be initiated, which may include resuscitation, epinephrine, administering additional antihistamines, antipyretics or corticosteroids. In patients who have experienced anaphylaxis or other severe allergic reactions during infusion with NAGLAZYME, caution should be exercised upon rechallenge; appropriately trained personnel and equipment for emergency resuscitation (including epinephrine) should be available during infusions.. As with other enzyme replacement therapies, immune-mediated reactions, including membranous glomerulonephritis have been observed. In clinical trials, nearly all patients developed antibodies as a result of treatment with NAGLAZYME; however, the analysis revealed no consistent ...
Read the side effects of Galsulfase as described in the medical literature. In case of any doubt consult your doctor or pharmacist.
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Inventiva to present in vivo data with odiparcil at the 14 th WORLD Symposium (TM) Data confirms potential as first oral therapy for MPS VI patients Daix (France), January 31
SAN RAFAEL, Calif., Oct. 27, 2016 (GLOBE NEWSWIRE) -- BioMarin Pharmaceutical Inc. (NASDAQ:BMRN) today announced financial results for the third quarter ended September 30, 2016. GAAP net loss was $43 million, or $(0.26) per basic and diluted share, for the third quarter of 2016, compared to GAAP net loss of $91 million, or $(0.57) and $(0.60) per basic and diluted share, respectively, for the third quarter of 2015. Non-GAAP income was $3 million for the quarter ended September 30, 2016, compared to non-GAAP loss of $41 million for the third quarter of 2015.. The change in GAAP net loss and non-GAAP income and loss compared to the prior year quarter was primarily due to increased gross margins from Naglazyme, Kuvan and Vimizim net product revenues, partially offset by increased selling, general and administrative expenses for Vimizim and Kuvan.. Total BioMarin Revenues were $280 million for the third quarter of 2016, an increase of 34% compared to the same period in 2015. Vimizim net product ...
If you have good before and after photos, we will buy them from you for up to $750 per set. In particular we are looking for pictures of Fitz IV, V, and VI patients. The patient has to sign the consent, the pictures have to be good, and you have to give us the settings. If you want help setting up a good photo space, let me know. Download the PDF form here (or on ScitonPro.com) ...
If you have good before and after photos, we will buy them from you for up to $750 per set. In particular we are looking for pictures of Fitz IV, V, and VI patients. The patient has to sign the consent, the pictures have to be good, and you have to give us the settings. If you want help setting up a good photo space, let me know. Download the PDF form here (or on ScitonPro.com) ...
Looking for online definition of galsulfase in the Medical Dictionary? galsulfase explanation free. What is galsulfase? Meaning of galsulfase medical term. What does galsulfase mean?
Mucopolysaccharidosis (MPS) is a group of rare metabolic diseases characterized by intralysosomal accumulation of glycosaminoglycans. MPS type VI or Maroteaux-Lamy syndrome is an autosomal-recessive syndrome caused by mutations in the lysosomal enzyme arylsulfatase B. A defect in the gene leads to accumulation of nondegraded mucopolysaccharides, resulting in severe cellular dysfunction with multisystem expression. The oral manifestations of MPS VI are not well described in the literature. This paper presents a series of seven patients with MPS VI, with the description of the general clinical manifestations and focus on the still rarely studied oral manifestations of the syndrome. Among them were high palate, open bite, impacted and/or included teeth, thickening of the pericoronal follicle, and changes in the temporomandibular joint. (Quintessence Int 2012;43:e32 e38) Key words: arylsulfatase B, metabolic diseases, mucopolysaccharidosis, oral manfestations ...
Myelopathy due to compression of the cervical spinal cord by thickened dura developed in a patient with Maroteaux-Lamy syndrome. During the last trimester of pr
Mucopolysaccharidosis VI: Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008 ...
Mucopolysaccharidosis VI information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We cant imagine walking this journey without ...
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FDA Orphan Drug Designation received earlier this month. , EMA and FDA Orphan designations validate odiparcil potential to improve treatment options for MPS VI patients. , iMProveS phase IIa study in MPS VI patients on track to begin recruitment by year-end 2017. Daix (France), August 29, 2017 at 07:30am CEST - Inventiva, a biopharmaceutical company developing innovative therapies, particularly in fibrosis, today announced that the European Medicines Agency (EMA) has granted Orphan Drug Designation to odiparcil (formerly IVA336) for the treatment of MPS VI.. This decision could accelerate the availability of a much needed new treatment for MPS VI patients,; said Christine Lavery, President of the UK MPS Society added Professor Chris Hendriksz, of FYMCA Medical Ltd. and University of Pretoria, South Africa.. We recently received U.S. orphan drug status and with this new EU designation we continue delivering on our regulatory strategy for odiparcil. Clearly the recent preclinical data we ...
Nonsense mutations are quite prevalent in inherited diseases. Readthrough drugs could provide a therapeutic option for any disease caused by this type of mutation. Geneticin (G418) and gentamicin were among the first to be described. Novel compounds have been generated, but only a few have shown improved results. PTC124 is the only compound to have reached clinical trials. Here we first investigated the readthrough effects of gentamicin on fibroblasts from one patient with Sanfilippo B, one with Sanfilippo C, and one with Maroteaux-Lamy. We found that ARSB activity (Maroteaux-Lamy case) resulted in an increase of 2-3 folds and that the amount of this enzyme within the lysosomes was also increased, after treatment. Since the other two cases (Sanfilippo B and Sanfilippo C) did not respond to gentamicin, the treatments were extended with the use of geneticin and five non-aminoglycoside (PTC124, RTC13, RTC14, BZ6 and BZ16) readthrough compounds (RTCs). No recovery was observed at the enzyme activity level.
The following tests are included in this combination: Polycystic kidney disease (PKD), Progressive retinal atrophy (pd-PRA), Hypotrichosis and short life expectancy and Mucopolysaccharidosis type VI (MPS6).
PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of Health (NIH) free digital archive of biomedical and life sciences journal literature and is a member of the broader PMC International (PMCI) network of e-repositories.
1AUK: Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.
BioMarin Pharmaceuticals beat revenue expectations for the second quarter, but since the better-than-expected results came mostly from a one-time benefit from Naglazyme sales, the biotech kept its 2015 guidance steady.
ARSB antibody [N3C3] (arylsulfatase B) for WB. Anti-ARSB pAb (GTX102829) is tested in Human, Mouse, Rat samples. 100% Ab-Assurance.
Goat polyclonal antibody raised against synthetic peptide of ARSB. A synthetic peptide corresponding to human ARSB. (PAB7369) - Products - Abnova
ARSB Antibody 13227-1-AP has been identified with ELISA, WB, IHC. 13227-1-AP detected 44kd band in HepG2 cells with 1:500-1:1000 dilution...
TY - JOUR. T1 - Transcultural Understanding of a Hereditary Disorder. T2 - Mucopolysaccharidosis VI in a Vietnamese Family. AU - Handelman, Lauren. AU - Menahem, Samuel. AU - Eisenbruch, I. Maurice. PY - 1989/1/1. Y1 - 1989/1/1. N2 - A case study of a family referred for clarification of cultural issues illustrates how a transcultural psychiatric service developed in the pediatric hospital setting can be used to advantage. A Vietnamese family with an inherited disorder, Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI),1 resisted genetic counseling and contraception. Three out of their six children were affected, one with a fatal outcome. The transcultural consultation offered an understanding of their behavior and facilitated subsequent management.. AB - A case study of a family referred for clarification of cultural issues illustrates how a transcultural psychiatric service developed in the pediatric hospital setting can be used to advantage. A Vietnamese family with an inherited ...
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene. This gene encodes N-acetylgalactosamine-6-sulfatase, which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans keratan sulfate and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. GRCh38: Ensembl release 89: ENSG00000141012 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000015027 - Ensembl, May 2017 Human PubMed Reference:. Mouse PubMed Reference:. Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, et al. (Jan 1992). Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun. 181 (2): 677-83. ...
Galsulfase, a Food and Drug Administration-approved enzyme replacement therapy for mucopolysaccharidosis VI, is administered once weekly in a hospital setting as a 4-hour intravenous infusion. To improve convenience and alleviate family responsibilities associated with clinic visits, some physicians are transitioning appropriate patients to home infusion therapy. An online survey was conducted with 3 physicians treating 4 patients with mucopolysaccharidosis VI to better understand the factors motivating the transition to home infusion therapy, identify characteristics of appropriate candidates, and evaluate the potential impact on the lives of patients and their families. Survey results showed that home infusion may offer patients and their families increased flexibility of schedule and enhanced family life ...
About BioMarin. BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. The companys product portfolio comprises four approved products and multiple clinical and pre-clinical product candidates. Approved products include Naglazyme® (galsulfase) for mucopolysaccharidosis VI (MPS VI), a product wholly developed and commercialized by BioMarin; Aldurazyme® (laronidase) for mucopolysaccharidosis I (MPS I), a product which BioMarin developed through a 50/50 joint venture with Genzyme Corporation; Kuvan® (sapropterin dihydrochloride) Tablets, for phenylketonuria (PKU), developed in partnership with Merck Serono, a division of Merck KGaA of Darmstadt, Germany; and Firdapse® (amifampridine), which has been approved by the European Commission for the treatment of Lambert Eaton Myasthenic Syndrome (LEMS). Product candidates include Vimizim (N-acetylgalactosamine 6-sulfatase), formally referred to as GALNS, which successfully completed Phase III ...
ARSB : Arylsulfatase B (ARSB) can be measured with nitrocatechol sulfate as the substrate. The conditions established are such that arylsulfatase A activity is minimal and its residual activity can be accounted for and subtracted from the activity of ARSB.(Baum H, Dodgson KS, Spencer B: Assay of arylsulfatases A and B in human urine. Clin Chim Acta 1959;4:453-455)
Mucopolysaccharidosis (MPSs) are inherited metabolic diseases caused by a deficiency of lysosomal enzymes responsible for degradation of glycosaminoglycans, resulting in accumulation of these macromolecules within the lysosomes of cells,resulting in dysfunction of various organs and tissues in a progressive manner. A variation of this disease is a mucopolysaccharidosis (MPS) type VI or Maroteax-Lamy syndrome, in which the patient appears normal at birth but, in addition to the accumulation of MPSs arise progressive deformities such as short stature, coarse face, contractures joint, several skeletal defects, as well as cardiovascular,hepatoesplenomigalia, ocular, oral and speech therapy. This type of MPS does not have mental retardation and psychomotor retardation. This report presents some consequences arising from the speech therapy and dental syndrome, a carrier male with eight years of age. Physical examinations were performed, radiographic, speech therapy, dental, medical history and also ...
Dive into the research topics of A molecular dynamics approach for the association of apolipoproteinb-100 and chondroitin-6-sulfate. Together they form a unique fingerprint. ...
PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of Health (NIH) free digital archive of biomedical and life sciences journal literature and is a member of the broader PMC International (PMCI) network of e-repositories.
Enzyme replacement therapy: Enzyme replacement therapy is available for mucopolysaccharidoses type I (Hurler-Scheie and Scheie phenotypes), type II (Hunter syndrome), and type VI (Maroteaux-Lamy syndrome). Although enzyme replacement therapy may have systemic benefits for the patient, little evidence suggests that it favorably alters the natural history of the spinal disease. ...
Aug 07, 2020 (Heraldkeepers) -- The Enzyme Replacement Therapy Market is segmented on the Basis of Therapeutic Conditions Type, Route of Administration Type, Distribution Channel Type and Regional Analysis. By Therapeutic Conditions Type this market is segmented on the basis of Fabry Disease, Gaucher Disease, Mucopolysaccharidosis, MPS I, MPS II (Hunter syndrome), MPS VI (Maroteaux-Lamy syndrome), MPS IVA (Morquio syndrome, type A), MPS VII (Sly syndrome), Pompe Disease, Lysosomal Acid Lipase Deficiency and Others. By Route of Administration Type this market is segmented on the basis of Oral and Injectable. By Distribution Channel Type this market is segmented on the basis of Hospital Pharmacies, Specialty Treatment Pharmacies and Retail Pharmacies. By Regional Analysis this market is segmented on the basis of North America, Europe, Asia-Pacific and Rest of the World. The Enzyme Replacement Therapy Market is expected to exceed more than US$ 13.76 Billion by 2024 at a CAGR of 7% in the given ...
Mucopolysaccharides are long molecular chains of sugar. They are used by the body in the building of connective tissues. They must also be broken down and reused by the body. Children with MPS are unable to produce one of the enzymes essential to this task. Mucopolysaccharide diseases (or Mucopolysaccharidosis or MPS) are genetic diseases caused by recessive genes. There are seven Mucopolysaccharide (MPS) disorders. They are referred to as MPS I-VII but many of them go by the name of the doctor who first described the condition as well. Hunter syndrome, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome, Maroteaux-Lamy syndrome, and Morquio disease are all Mucopolysaccharide diseases.
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Sulfatase 2兔多克隆抗体(ab101057)可与人样本反应并经WB, ICC/IF实验严格验证。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
Cisapid Mps in Telugu - యొక్క ఉపయోగాలు, మోతాదు, దుష్ప్రభావాలు, ప్రయోజనాలు, పరస్పర చర్యలు మరియు హెచ్చరికను కనుగొనండి - Cisapid Mps yokka upayogaalu, mothaadu, dushprabhaavaalu, prayojanaalu, praspara charyalu mariyu hechcharika
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopathies and to present validating data for JOA in these diseases. A new scale, Severity Score System for Progressive Myelopathy (SSPROM), was constructed covering motor disability, sphincter dysfunction, spasticity, and sensory losses. Inter- and intra-rater reliabilities were measured. External validation was tested by applying JOA, the Expanded Disability Status Scale (EDSS), the Barthel index, and the Osame Motor Disability Score. Thirty-eight patients, 17 with adrenomyeloneuropathy, 3 with mucopolysaccharidosis I, 3 with mucopolysaccharidosis IV, 2 with mucopolysaccharidosis VI, 2 with mucolipidosis, and 11 with human T-cell lymphotropic ...
Many steps are necessary for the correct synthesis and processing of lysosomal enzymes.. Lysosomal Storage Disorders (LSDs) are caused by genetic defects that affect the synthesis or processing of lysosomal hydrolases. Therefore, a lysosomal disorder can be due to a defect in a specific hydrolase, by deficiencies in activator proteins, in the receptors or in the trafficking of enzymes.. The EUCLYD consortium will be focusing on four specific LSDs, namely Gaucher disease, Pompe disease, Mucopolysaccharidosis VI (MPS VI) and Multiple Sulfatase Deficiency (MSD), as prototypes of disorders with different stored materials in various organs and tissues outside the CNS.. The issues to be investigated in the proposed project are: i. pathophysiology and mechanisms underlying the symptoms and leading to devastating clinical consequences; ii. natural history, and iii. testing of novel therapeutic approaches. These issues will be addressed by patients studies and with animal models recapitulating the ...
TY - JOUR. T1 - Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16. AU - Genuardi, Maurizio. AU - Catarzi, S.. AU - Giunti, L.. AU - Papadia, F.. AU - Gabrielli, O.. AU - Guerrini, R.. AU - Donati, M. A.. AU - Morrone, A.. PY - 2012. Y1 - 2012. N2 - Morquio A syndrome (MPS IVA) is a recessive lysosomal storage disorder (LSD) caused by mutations in the GALNS gene leading to the deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Patients show a broad spectrum of phenotypes ranging from classical severe type to mild forms. Classical forms are characterized by severe bone dysplasia and usually normal intelligence. So far, more than 170 unique mutations have been identified in the GALNS gene of MPS IVA patients. We report on a Morquio A patient with a classical phenotype who was found to be homozygous for a missense mutation (c.236 G , A: p.Cys79Tyr) in the GALNS gene. This alteration affects the highly conserved p.Cys79 that ...
Enzyme Replacement Therapy End-use Demand Forecasting Market size is estimated to reach $13,000 million by 2026, growing at a CAGR of 6.5% over
Subject has been previously treated with Replagal or any other enzyme replacement therapy for Fabry Disease. If the patient has previously been treated with Replagal or another enzyme replacement therapy then they must have been off the therapy for at least 30 days and must have a Day-14 antibody blood sample drawn and that test must be negative for anti-agalsidase alfa IgG and IgE antibodies and not experienced a prior severe infusion reactions with prior enzyme replacement therapy ...
Mouse anti Human Sulfatase 2 (C-Terminal) antibody, clone 2B4 recognizes an epitope within the C-terminal (CT) subunit of Sulfatase 2 (Sul
|strong|Mouse anti Human Sulfatase 2 (C-Terminal) antibody, clone 2B4|/strong| recognizes an epitope within the C-terminal (CT) subunit of Sulfatase 2 (Sulf-2). Sulf-2 is a novel extracellular heparan…
Abcam provides specific protocols for Anti-Iduronate 2 sulfatase antibody (ab85701) : Western blot protocols, Immunohistochemistry protocols